prkaca[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 2672233	NM_002730.4(PRKACA):c.1022A>G (p.Asn341Ser)	PRKACA (N333S +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 2649411	NM_002730.4(PRKACA):c.996G>A (p.Glu332=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287087	NM_002730.4(PRKACA):c.879G>T (p.Lys293Asn)	PRKACA (K369N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065085	NM_002730.4(PRKACA):c.875T>C (p.Ile292Thr)	PRKACA (I284T +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 741657	NM_002730.4(PRKACA):c.870C>T (p.Asn290=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237913	NM_002730.4(PRKACA):c.859A>G (p.Asn287Asp)	PRKACA (N287D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768975	NM_002730.4(PRKACA):c.843C>G (p.Arg281=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2649412	NM_002730.4(PRKACA):c.811C>T (p.Arg271Trp)	PRKACA (R263W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541259	NM_002730.4(PRKACA):c.790T>C (p.Ser264Pro)	PRKACA (S264P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040944	NM_002730.4(PRKACA):c.753C>T (p.Ile251=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related condition	GLikely benign
Select item 3038163	NM_002730.4(PRKACA):c.732C>T (p.Pro244=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related condition	GLikely benign
Select item 755149	NM_002730.4(PRKACA):c.711G>A (p.Pro237=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related condition +1 more	GLikely benign
Select item 2435242	NM_002730.4(PRKACA):c.627G>T (p.Glu209Asp)	PRKACA (E201D +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 737730	NM_002730.4(PRKACA):c.624T>G (p.Pro208=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 91945	NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)	PRKACA (L206R +2 more)	Single nucleotide variant (missense variant)	ACTH-independent adrenal Cushing syndrome, somatic +2 more	GPathogenic/Likely pathogenic
Select item 2649413	NM_002730.4(PRKACA):c.600C>T (p.Cys200=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162471	NM_002730.4(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp)	PRKACA	Duplication (inframe_insertion)	Pigmented nodular adrenocortical disease, primary, 4	GPathogenic
Select item 2332237	NM_002730.4(PRKACA):c.591G>T (p.Trp197Cys)	PRKACA (W197C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797699	NM_002730.4(PRKACA):c.540C>T (p.Tyr180=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989460	NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)	PRKACA (G137R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 731258	NM_002730.4(PRKACA):c.381G>A (p.Gly127=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739600	NM_002730.4(PRKACA):c.337-9T>C	PRKACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649414	NM_002730.4(PRKACA):c.321C>G (p.Leu107=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631685	NM_002730.4(PRKACA):c.197C>G (p.Thr66Ser)	PRKACA (T142S +2 more)	Single nucleotide variant (missense variant)	PRKACA-related condition	GUncertain significance
Select item 2553520	NM_002730.4(PRKACA):c.185A>G (p.Lys62Arg)	PRKACA (K54R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743261	NM_002730.4(PRKACA):c.165C>T (p.Phe55=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related condition +1 more	GLikely benign
Select item 3049005	NM_002730.4(PRKACA):c.150C>T (p.Leu50=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related condition	GLikely benign
Select item 733752	NM_002730.4(PRKACA):c.109-6C>T	PRKACA	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 708471	NM_002730.4(PRKACA):c.102C>T (p.Pro34=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1321985	NM_002730.4(PRKACA):c.61G>C (p.Ala21Pro)	PRKACA (A13P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3044521	NM_002730.4(PRKACA):c.47-332G>A	PRKACA (G82S)	Single nucleotide variant (missense variant +1 more)	PRKACA-related condition	GBenign
Select item 3038933	NM_002730.4(PRKACA):c.47-418C>T	PRKACA (P53L)	Single nucleotide variant (missense variant +1 more)	PRKACA-related condition	GLikely benign
Select item 3047053	NM_002730.4(PRKACA):c.46+3338G>A	PRKACA	Single nucleotide variant (5 prime UTR variant +1 more)	PRKACA-related condition	GLikely benign
Select item 3047474	NM_002730.4(PRKACA):c.46+10C>T	PRKACA	Single nucleotide variant (intron variant)	PRKACA-related condition	GLikely benign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic

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Items: 49